Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 16-02-2010

Symbol	PSRP
Location	17q21.31
Name	progressive supranuclear palsy
Other name(s)	Steele-Richardson-Olszewski syndrome
Corresponding gene	MAPT
Other symbol(s)	PSNP1
Main clinical features	onset in the sixties, characterized by supranuclear vertical gaze palsy, postural instability, predominant frontal cognitive disturbance, erect or opisthotonic posture, spastic or ataxic dysarthria dysphagia, with a fatal outcome with double PHF (paired helical filaments) -tau, neurofibrillar tangles, neuronal and glial tau accumulation in the cortex, basal ganglia, brainstem nuclei and white matter
Genetic determination	autosomal dominant
Related entries	including supranuclear palsy, progressive atypical and Steele-Richardson-Olszewski syndrome atypical (OMIM : 260540)
Function/system disorder	neurology
Type	disease

Gene product

Name	microtubule-associated protein tau

Remark(s)